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  2. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / s n ɪ p /; plural SNPs / s n ɪ p s /) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), [ 1 ...

  3. SNP array - Wikipedia

    en.wikipedia.org/wiki/SNP_array

    A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome , [ 1 ] 15 million of which are present at frequencies of 1% or higher across different populations worldwide.

  4. Allelic heterogeneity - Wikipedia

    en.wikipedia.org/wiki/Allelic_heterogeneity

    These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens, genetic drift, or genetic migration. Many of these mutations take the form of single nucleotide polymorphisms in which a single nucleotide base is altered compared to a consensus sequence.

  5. Human genetic variation - Wikipedia

    en.wikipedia.org/wiki/Human_genetic_variation

    A single nucleotide polymorphism (SNP) is a difference in a single nucleotide between members of one species that occurs in at least 1% of the population. The 2,504 individuals characterized by the 1000 Genomes Project had 84.7 million SNPs among them. [ 2 ]

  6. Tag SNP - Wikipedia

    en.wikipedia.org/wiki/Tag_SNP

    A tag SNP is a representative single nucleotide polymorphism (SNP) in a region of the genome with high linkage disequilibrium that represents a group of SNPs called a haplotype. It is possible to identify genetic variation and association to phenotypes without genotyping every SNP in a chromosomal region.

  7. SNP genotyping - Wikipedia

    en.wikipedia.org/wiki/SNP_genotyping

    SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species. It is a form of genotyping, which is the measurement of more general genetic variation. SNPs are one of the most common types of genetic variation.

  8. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    The study concluded that twelve percent of the genome contained CNVRs. They were found to be involved in more of the DNA in each genome than single nucleotide polymorphisms. [6] This was a remarkable discovery since single nucleotide polymorphisms have been known to be the greatest in number in the human genome.

  9. dbSNP - Wikipedia

    en.wikipedia.org/wiki/DbSNP

    The Single Nucleotide Polymorphism Database [1] (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI).